An 18-month-old Queensland tot born with a genetic condition that affects only 20 people worldwide has undergone a 'life-changing' operation thanks to a Mater surgeon.
Ocie Ni Dheasmhunaigh was born at South Brisbane's Mater Mothers' Hospital with IMAGe syndrome, a condition that includes characteristics of intrauterine growth restriction (IUGR), metaphyseal dysplasia (genetic bone disorder) and adrenal hypoplasia congenita (disorder that affects the adrenal glands).
Ocie weighs just 4kg and is unable to stand due to hip dysplasia.
Ocie's parents Gemma Bergin, a makeup artist, and Fiachra Deasmhunaigh, an orthopaedic registrar, said their daughter's diagnosis had come as a "complete shock".
Initial pregnancy scans on the Sunshine Coast revealed their unborn daughter's growth had "significantly slowed" inside her mother's womb.
"We knew she was going to be born quite small but had no idea about her hips or her rare condition until one year after she was born," said Ms Bergin, from Budina on the Sunshine Coast.
Orthopaedic surgeon Dr David Bade recently performed two surgeries at Mater Children's Private Hospital Brisbane on Ocie to repair her hip dysplasia, which will enable her to finally stand unassisted and eventually take her first steps.
Dr Bade said hip dysplasia is a treatable condition, but left untreated it can cause irreversible damage leading to pain and loss of function later in life.
"Ocie's condition is incredibly rare. When you get a condition like this, there is no set plan to follow," Dr Bade said.
"Hip dysplasia is not a condition we operate on in newborns. Ocie is the size of a newborn but she is at an age of surgical intervention to correct dislocated hips."
Before operating on Ocie, Dr Bade conferred with colleagues overseas and through the Hip Hope Network, a global group of hip health professionals who collaborate on hip research.
"There was a big team approach at Mater to get Ocie's surgery underway," Dr Bade said.
"The first thing we took into account how she would get through surgery, measured blood loss and how she would cope with anesthetics.
"During surgery we made a small cut in her hip bone via a standard anterior approach and both her hips popped into her joints nicely."
Ocie's casts will be removed from her legs by Christmas and she will be in a specially sourced removable baby-sized brace for around 10 more weeks.
Ms Bergin was 20 weeks pregnant when she was referred to the Mater Centre for Maternal Fetal Medicine (MFM) at Mater Mother's Hospital, where she was diagnosed with IUGR.
An anxious Ms Bergin attended Mater's Fetal Growth Clinic several times a week for check-ups, with her unborn baby continuing to measure seven weeks behind expected growth.
On 22 May last year at 37 weeks gestation, Ocie was born at Mater Mothers' Hospital via a planned cesarean section.
She weighed just 1.3kg and spent almost six weeks in the Neonatal Critical Unit due to ongoing feeding issues.
Ms Bergin said Ocie had stopped growing a few months after being born and was so unwell she was hospitalised.
With the help of Queensland clinical geneticist and researcher Professor David Coman, Ms Bergin continued to look into the cause of Ocie's deteriorating health.
"We underwent genetic testing, only available in America, and in June this year those tests revealed Ocie's condition was inherited from both myself and her dad."
Ms Bergin said now that her family have a diagnosis, they know Ocie will need ongoing medical care to monitor issues relating to her condition, including medication for her adrenal glands and monitoring of her growth and bone structure.
She might be tiny in stature, but her fight for survival has been nothing short of remarkable, said Ms Bergin.
"Ocie is so tiny I've started learning how to sew, with the hope of making her clothes she can wear comfortably," she said.
"Ocie still wears newborn clothes. She might be a different height or size to toddlers her age, but to everyone she meets she is pure magic.
"We can't wait to see what the future holds for our precious little miracle and watch her take her first steps."
